Program Operations Manual System (POMS)
TN 57 (08-23)
DI 23022.437 Leber Congenital Amaurosis
COMPASSIONATE ALLOWANCE INFORMATION
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LEBER CONGENITAL AMAUROSIS
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ALTERNATE NAMES
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Amaurosis Congenita of Leber; Congenital Absence of Rods and Cones; Congenital Retinal
Blindness; LCA; Leber’s Amaurosis; Leber’s Congenital Amaurosis; Leber’s Congenital
Tapetoretinal Degeneration; Leber’s Congenital Tapetoretinal Dysplasia
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DESCRIPTION
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Leber Congenital Amaurosis (LCA) is a disease of infancy in which the rods and cones -- the photoreceptors in the
retinas which detect color and light -- fail to properly develop, resulting in severe
vision impairment. It is the most common cause of blindness in children.
LCA is a genetic disorder that follows an autosomal-recessive inheritance pattern.
It can be caused by defects on one of several genes, most commonly CEP290, CRB1, GUCY2D, and REP65. There are currently over 20 identified variants of LCA; in about 30 percent of cases,
the affected gene is not determinable.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: LCA is diagnosed through ophthalmological and laboratory testing. Electroretinogram
tests measure the function of the rods and cones; a genetic workup can help identify
the affected gene.
Physical findings: Symptoms of LCA include:
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Photophobia (hypersensitivity to light);
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Nystagmus (involuntary twitching of the eyes);
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Hyperopia (extreme farsightedness);
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Franceschetti’s oculo-digital sign (compulsive rubbing and poking of the eye with
a finger);
ICD-9: 362.70
ICD-10: H35.50
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PROGRESSION
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Generally, people with LCA require assistive devices and care for the duration of
their lives. Some children with LCA experience slight improvement in visual acuity
as they mature, but this is uncommon.
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TREATMENT
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There is no cure for LCA. Treatment is supportive and relies on standard tools and
devices (e.g., canes, audio cues, service animals) to assist with mobility and other
activities of daily living.
Clinical trials involving gene therapy have shown some promise in restoring retinal
function, but overall results are inconclusive and further study is needed.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
and
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Laboratory tests confirming visual impairment and retinal dysfunction.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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2.02
102.02
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Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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